Journal of Neurology

, Volume 262, Issue 7, pp 1724–1727 | Cite as

Clinical variability in ataxia–telangiectasia

  • Ebba LohmannEmail author
  • Stefanie Krüger
  • Ann-Kathrin Hauser
  • Hasmet Hanagasi
  • Gamze Guven
  • Nihan Erginel-Unaltuna
  • Saskia Biskup
  • Thomas Gasser
Original Communication


Ataxia–telangiectasia (A-T) is an autosomal recessive inherited disease characterized by progressive childhood-onset cerebellar ataxia, oculomotor apraxia, choreoathetosis and telangiectasias of the conjunctivae. Further symptoms may be immunodeficiency and frequent infections, and an increased risk of malignancy. As well as this classic manifestation, several other non-classic forms exist, including milder or incomplete A-T phenotypes caused by homozygous or compound heterozygous mutations in the ATM gene. Recently, ATM mutations have been found in 13 Canadian Mennonites with early-onset, isolated, predominantly cervical dystonia, in a French family with generalized dystonia and in an Indian family with dopa-responsive cervical dystonia. In this article, we will describe a Turkish family with three affected sibs. Their phenotypes range from pure cervical dystonia associated with hand tremor to truncal and more generalized dystonic postures. Exome sequencing has revealed the potentially pathogenic compound heterozygous variants p.V2716A and p.G301VfsX19 in the ATM gene. The variants segregated perfectly with the phenotypes within the family. Both mutations detected in ATM have been shown to be pathogenic, and the α-fetoprotein, a marker of ataxia telangiectasia, was found to be increased. This report supports recent literature showing that ATM mutations are not exclusively associated with A-T but may also cause a more, even intra-familial variable phenotype in particular in association with dystonia.


ATM Dystonia Turkey Phenotype 



The authors thank all the family for participation and Marianne Abrams for language editing. Ebru Özer and Meltem Pak helped with obtaining the samples. This project is supported by the European Social Fund and by the Ministry of Science Research and the Arts Baden-Württemberg.

Conflicts of interest


Supplementary material

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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Ebba Lohmann
    • 1
    • 2
    Email author
  • Stefanie Krüger
    • 3
  • Ann-Kathrin Hauser
    • 1
  • Hasmet Hanagasi
    • 2
  • Gamze Guven
    • 4
  • Nihan Erginel-Unaltuna
    • 4
  • Saskia Biskup
    • 3
  • Thomas Gasser
    • 1
  1. 1.Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain ResearchUniversity of Tübingen, and DZNE, German Center for Neurodegenerative DiseasesTübingenGermany
  2. 2.Behavioural Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of MedicineIstanbul UniversityIstanbulTurkey
  3. 3.CeGaT, GmbHTübingenGermany
  4. 4.Department of Genetics, Institute for Experimental MedicineIstanbul UniversityIstanbulTurkey

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